Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities.
Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities.
复制标题
橄榄脑桥小脑变性。
作者：
E. Möller;B. Hindfelt;J. Olsson
33人在Schut-Swier家族的常染色体显性橄榄脑桥小脑变性的风险进行了检查，并确定了9个新的病例。这些受影响的个体表现为严重的小脑缺陷;皮质、延髓和脊髓运动神经元异常;和后柱功能障碍。两名患者的小脑活检材料显示浦肯野细胞广泛进展性丢失，皮质传入神经变性，颗粒细胞可变性丢失。在两个活检标本中发现类似副粘病毒核衣壳的蠕虫状小管与结晶包涵体相关。
Thirty-three persons in the Schut-Swier kindred at risk for autosomal dominant olivopontocerebellar degeneration have been examined and nine new cases identified. These affected individuals manifested severe cerebellar deficits; abnormalities of cortical, bulbar, and spinal motor neurons; and posterior column dysfunction. Cerebellar biopsy material from two patients revealed extensive progressing loss of Purkinje cells, degeneration of cortical afferents, and variable loss of granule cells. Vermiform tubules that resemble paramyxovirus nucleocapsids were found in association with crystalline inclusions in both biopsy specimens.